Genetic Disorders That Increase Cancer Risks (Part I)

A genetic syndrome, hereditary disorder, or inherited disease is a condition that is caused by an abnormality in an individual’s DNA. Genetic, hereditary, and inherited means family members can pass these conditions on to succeeding generations. Moreover, the following genetic disorders increase affected families’ cancer risks, according to Cancer.Net.


Ataxia-telangiectasia (A-T) is an inherited condition marked by progressive neurologic problems that cause difficulty walking and a raised risk of breast cancer. Signs of Ataxia-Telangiectasia often develop in childhood. Young girls with this condition may stagger and appear unsteady (ataxia) soon after learning to walk. A-T also occurs in young boys. Support from a wheelchair may become necessary as the condition progresses.

Birt-Hogg-Dubé Syndrome

Birt-Hogg-Dubé syndrome (BHD) is associated with multiple benign (noncancerous) skin tumors, lung cysts, and an increased risk of benign and cancerous kidney tumors. Symptoms of BHD rarely appear until adulthood.

Carney Complex

Doctors characterize Carney complex as spotty skin pigmentation; myxomas, which are benign connective tissue tumors; and several other tumors of the hormone-producing glands (endocrine glands). Tumors and masses can be benign or malignant (cancerous).

Cowden Syndrome

Cowden syndrome is part of the PTEN hamartoma tumor syndrome. Hamartomas are noncancerous tumor-like growths. What characterizes Cowden syndrome is a high risk of both benign and malignant tumors of the breast, thyroid, colorectal, kidney, endometrium (uterus), and skin (melanoma).

Familial Adenomatous Polyposis

Classic familial adenomatous polyposis, also called FAP or classic FAP, occurs when a man or woman develops over 100 adenomatous colon polyps. An adenomatous polyp is an area where cells that line the colon form a mass inside of intestinal tract.

The average age for adenomatous polyps to emerge in people with FAP is in the mid-teens. Most patients with this condition will have multiple colon polyps by the age of 35. Without treatment, there is a high likelihood of developing colorectal cancer.

Familial Gastrointestinal Stromal Tumor

Familial GIST raises a person’s risk of getting gastrointestinal stromal tumor (GIST). GISTs form in the gastrointestinal (GI) tract, which comprises the esophagus, stomach, small intestine, gallbladder, liver, colon, rectum, and the lining of the gut. The GI tract plays an essential and irreplaceable role in digesting food and liquid, as well as processing waste.

Gastrointestinal stromal tumors begin in the interstitial cells of Cajal (ICC) found in the GI tract wall. GISTs vary from more common types of GI tumors because of the specific type of tissue in which they start. GISTs belong to a cluster of cancers called soft tissue sarcoma.

Familial Malignant Melanoma

Familial malignant melanoma refers to families in which two or more first-degree blood relatives, such as a parent, sibling, or child, have a skin cancer called melanoma. Overall, about 8 percent of people diagnosed with melanoma skin cancer have a first-degree relative with the same disease. A much smaller percentage, about 1 to 2 percent, has two or more close relatives with melanoma.

Familial Non-von Hippel Lindau Clear Cell Renal Cell Carcinoma

Familial non-VHL clear cell renal cell carcinoma (CCRCC) raises the risk of the clear cell type of renal cell carcinoma (a type of kidney cancer). The name distinguishes this condition from von Hippel-Lindau syndrome (VHL), which is a common cause of inherited clear cell renal cell carcinoma.

Familial Pancreatic Cancer

Familial pancreatic cancer (FPC) is a medical term describing families with an unusually high rate of pancreatic cancer. Ductal adenocarcinoma is the most common type of pancreatic cancer, which starts when healthy cells lining the pancreatic ducts mutate and grow out of control, forming a tumor.

Hereditary Breast and Ovarian Cancer

Doctors often confirm a diagnosis of hereditary breast and ovarian cancer syndrome (HBOC) when there are several cases of breast cancer and ovarian cancer on both the mother’s and father’s side of the family.

Hereditary Diffuse Gastric Cancer

Hereditary diffuse gastric cancer (HDGC) is a rare genetic condition linked with an increased risk of gastric (stomach) cancer. The stomach is found in the upper abdomen and plays a vital role in digesting food. While some people refer to the stomach as the entire abdomen, doctors make a clear distinction between the stomach, which is an organ, and the abdomen, which is the area of the human body between the chest and pelvic bones.

Hereditary Leiomyomatosis and Renal Cell Cancer

HLRCC is a hereditary disorder associated with multiple leiomyomas, which are smooth muscle tumors emerging in the skin, uterine fibroid, and type 2 papillary renal (kidney) cancer. Someone with hereditary leiomyomatosis and renal cell cancer can have either zero, a few, or many skin tumors. These tumors often develop in adulthood and manifest themselves through painful growths on the chest, back, arms, and legs. Women with HLRCC can develop uterine fibroid in their teenage years or early 20s.

Hereditary Mixed Polyposis Syndrome

Hereditary mixed polyposis syndrome (HMPS) is a genetic syndrome that increases an affected person’s risk of developing polyps in the digestive tract, and especially in the colon and/or rectal area. A polyp is a growth of normal tissue that creates a lump. As the name suggests, a variation of polyps may occur. Those with HMPS can have an increased risk of developing colorectal cancer, since some polyps may develop into cancer over time, unless a surgeon removes them.

Hereditary Pancreatitis

Hereditary pancreatitis (HP) is associated with chronic pancreatitis. Pancreatitis is an inflammation of the pancreas, which is a large gland behind the stomach and next to the small intestine. People with HP also have an increased risk of pancreatic cancer.

Hereditary Papillary Renal Carcinoma

Hereditary papillary renal carcinoma (HPRC) raises a person’s risk of the papillary type of renal cell carcinoma. The tumors in HPRC are a particular type of papillary cancer called type 1 papillary renal cell cancer. People with HPRC have a heightened risk of multiple kidney tumors and an elevated risk of developing tumors on both kidneys, which medical experts call bilateral tumors.

Keep an eye out for part two of this article, where we will discuss other hereditary conditions that increase cancer risks, and the advancing treatment strategies for genetic disorders.

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